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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANKH Gene

protein-coding   GIFtS: 56
GCID: GC05M014706

ankylosis, progressive homolog (mouse)

(Previous names: ankylosis, progressive (mouse) homolog, craniometaphyseal...)
(Previous symbols: CCAL2, CMDJ)
 Explore 27 diseases affiliated with
ANKH via our new
 Human Malady Compendium 
Biological research products
for ANKH
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ankylosis, Progressive Homolog (Mouse)1 2     Ankylosis, Progressive (Mouse) Homolog1
ANK1 2 3 5     Craniometaphyseal Dysplasia, Jackson Type (Dominant)1
CCAL21 2 5     MANK2
CMDJ1 2 5     Progressive Ankylosis Protein Homolog2
CPPDD1 2 5     KIAA15813
HANK1 2 5     

External Ids:    HGNC: 154921   Entrez Gene: 561722   Ensembl: ENSG000001541227   OMIM: 6051455   UniProtKB: Q9HCJ13   

Export aliases for ANKH gene to outside databases

Previous GC identifers: GC05M014695 GC05M014982 GC05M014757 GC05M014761 GC05M014762 GC05M014705


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ANKH:
This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls
pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been
suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals.
Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. (provided by RefSeq,
Jul 2008)

UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi
transporter

Gene Wiki entry for ANKH


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANKH gene promoter:
         GR   NF-1   NF-1/L   AML1a   CUTL1   E47   Egr-2   FOXO4   GR-alpha   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANKH promoter sequence
   Search SABiosciences Chromatin IP Primers for ANKH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANKH


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15.1   Ensembl cytogenetic band:  5p15.2   HGNC cytogenetic band: 5p15.2

ANKH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANKH gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M014706:  view genomic region     (about GC identifiers)

Start:
14,704,909 bp from pter      End:
14,871,887 bp from pter
Size:
166,979 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1 (See protein sequence)
Recommended Name: Progressive ankylosis protein homolog  
Size: 492 amino acids; 54241 Da
Subcellular location: Membrane; Multi-pass membrane protein (Probable)
Sequence caution: Sequence=BAB13407.1; Type=Erroneous initiation;
Secondary accessions: B2RCA7 D3DTD4 Q9NQW2

Explore the universe of human proteins at neXtProt for ANKH: NX_Q9HCJ1

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCJ1

  • ANKH Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_473368.1  
    ENSEMBL proteins: 
     ENSP00000284268   ENSP00000426332   ENSP00000442524  

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    Uscn Proteins for ANKH

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane ISS--
    GO:0005887integral to plasma membrane ISS--
    GO:0016021integral to membrane IDA11326272
    GO:0019867outer membrane TAS11326272


    ANKH for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ANKH for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009887 ANKH

    Graphical View of Domain Structure for InterPro Entry Q9HCJ1

    ProtoNet protein and cluster: Q9HCJ1

    1 Blocks protein family: IPB009887 Progressive ankylosis

    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
    Similarity: Belongs to the ANKH family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
    Function: Regulates intra- and extracellular levels of inorganic pyrophosphate (PPi), probably functioning as PPi
    transporter

    miRNA
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    hsa-miR-548j hsa-miR-3130-5p hsa-miR-3146 hsa-miR-106a hsa-miR-218-1* hsa-miR-219-5p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidANKH 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005315inorganic phosphate transmembrane transporter activity IDA11326272
    GO:0015114phosphate ion transmembrane transporter activity IEA--
    GO:0030504inorganic diphosphate transmembrane transporter activity IDA11326272


    ANKH for ontologies           About GeneDecksing


    4 GenomeRNAi human phenotypes for ANKH:
     G0/1 arrest  Increased G1 DNA content  Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Anktm1.1Kng for ANKH
         15 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ank):
     behavior/neurological  cardiovascular system  cellular  craniofacial  growth/size 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail 
     mortality/aging  muscle  reproductive system  respiratory system  skeleton 

    ANKH for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ANKH

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ANKH (ENSP000002842684) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPSAENSP000003460674STRING: ENSP00000346067
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS10894769
    GO:0007626locomotory behavior NAS10894769
    GO:0030500regulation of bone mineralization TAS11326272
    GO:0030505inorganic diphosphate transport IDA11326272


    ANKH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ANKH for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ANKH

    1 HMDB Compound for ANKH    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    3 Novoseek chemical compound relationships for ANKH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrophosphate 91.2 50 17906411 (3), 16462526 (3), 18034874 (3), 11326338 (2) (see all 26)
    hydroxyapatite 58.9 3 15569637 (1), 16462526 (1)
    calcium 6.7 2 17563703 (1), 18034874 (1)

    Search CenterWatch for drugs/clinical trials and news about ANKH 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANKH gene: 
    NM_054027.4  

    Unigene Cluster for ANKH:

    Ankylosis, progressive homolog (mouse)
    Hs.156727  [show with all ESTs]
    Unigene Representative Sequence: NM_054027
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000284268(uc003jfm.4) ENST00000502585 ENST00000503939 ENST00000515517
    ENST00000513115 ENST00000503389 ENST00000505140 ENST00000535119

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANKH
    8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate ANKH (see all 104):
    hsa-miR-548j hsa-miR-3130-5p hsa-miR-3146 hsa-miR-106a hsa-miR-218-1* hsa-miR-219-5p hsa-miR-519a hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidANKH 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANKH

    Additional cDNA sequence: 

    AB046801.1 AF274753.1 AK001799.1 AK054966.1 AK130112.1 AK130676.1 AK222631.1 AK315012.1 
    AL833238.1 AY358503.1 BC009835.2 BC014526.2 

    22 DOTS entries:

    DT.95302669  DT.105516  DT.448099  DT.91779733  DT.95302721  DT.97803887  DT.101970914  DT.40210918 
    DT.95302545  DT.40232332  DT.95104406  DT.100645433  DT.100786585  DT.100786586  DT.120815309  DT.95250382 
    DT.100637592  DT.100736158  DT.209965  DT.75188447  DT.91748403  DT.95189296 

    24/378 AceView cDNA sequences (see all 378):

    NM_054027 AA007428 BQ899362 BQ955342 AK130676 N90069 AI346315 AA593544 
    BM547717 CR613693 CK819937 BM710831 BU618635 F11358 AA324612 BF810455 
    AI978563 CB158823 AA252608 BF056362 BE876197 AI309218 BE673046 BU151082 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANKH expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ANKH Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANKH

    SOURCE GeneReport for Unigene cluster: Hs.156727

    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
    Tissue specificity: Found in osteoblasts from mandibular bone and from iliac bone; not detected in osteoclastic cells

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ANKH gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ank1 , 5 progressive ankylosis1, 5 89.57(n)1
    98.37(a)1
      15 (10.23 cM)5
    117321  NM_020332.41  NP_065065.31 
     274666775 
    chicken
    (Gallus gallus)
    Aves ANKH1 ankylosis, progressive homolog (mouse) 83.4(n)
    95.73(a)
      420917  NM_001012562.1  NP_001012580.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANKH6
    --
    94(a)
    1 ↔ 1
    4(60703795-60767671)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.119732 Xenopus laevis mRNA for progressive ankylosis-like protein (ank gene) less 77.15(n)    AJ302033.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ankh2 ankylosis, progressive homolog 77.63(n)   323738  AJ302035.1 


    ENSEMBL Gene Tree for ANKH (if available)
    TreeFam Gene Tree for ANKH (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2964 NCBI SNPs in ANKH are shown (see all 2964    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs585871821,2
    C--14704439(+) AAAAAAA/-GTGAT 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs1897448241,2
    --14704540(+) ATTGTC/TGGGCT 1 -- ds50010--------
    rs1499723041,2
    --14704619(+) AGTTGA/GAGAGG 1 -- ds50010--------
    rs2005530901,2
    --14704879(+) AGAAT-/AAAAAA 1 -- ds50010--------
    rs1451954351,2
    --14704920(+) GTATGC/GCAAGT 1 -- ut310--------
    rs1165907501,2
    C,F,--14705080(+) AAAAGC/TGACAT 1 -- ut311Minor allele frequency- T:0.02WA 118
    rs1823000141,2
    --14705143(+) TTTATC/TTGTAT 1 -- ut310--------
    rs1412640561,2
    --14705411(+) ATCTAG/TATCAC 1 -- ut310--------
    rs1455496931,2
    --14705538(+) TAGCAA/GTAATG 1 -- ut310--------
    rs1163625231,2
    C,--14705547(+) TGGCTC/GAAGCC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for ANKH (14704909 - 14871887 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ANKH
         1 CNV: 69017
    Human Gene Mutation Database (HGMD): ANKH

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ANKH for disorders           About GeneDecksing

    OMIM gene information: 605145   
    OMIM disorders: 123000  118600  
    UniProtKB/Swiss-Prot: ANKH_HUMAN, Q9HCJ1
  • Defects in ANKH are the cause of chondrocalcinosis 2 (CCAL2) [MIM:118600]. Chondrocalcinosis is a common cause
  • of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium
    hypophosphate crystals in synovial fluid, cartilage and periarticular soft tissue. CCAL2 inheritance is autosomal
    dominant
  • Defects in ANKH are the cause of craniometaphyseal dysplasia Jackson type (CMDJ) [MIM:123000]. CMDJ is a rare
  • autosomal dominant skeletal disorder characterized by abnormal bone formation and mineralization in membranous as well
    as endochondral bones. Progressive thickening of the bones can cause narrowing of cranial foramina and can lead to
    severe visual and neurological impairment, such as facial palsy and deafness

    20/27 diseases for ANKH (see all 27):    About MalaCards
    craniometaphyseal dysplasia    ankylosis    craniometaphyseal dysplasia, autosomal dominant    arthritis
    pseudogout    chondrocalcinosis 2    facial paralysis    metaphyseal dysplasia
    craniosynostosis    calcinosis    ankylosing spondylitis    spondylitis
    hypophosphatasia    arthropathy    hearing loss    dilated cardiomyopathy
    paralysis    craniosynostosis, syndromic    hypophosphatemia    obesity, association with

    4 diseases from the University of Copenhagen DISEASES database for ANKH:
    Craniometaphyseal dysplasia     Pseudogout     Ankylosis     Hypophosphatasia

    10/13 Novoseek disease relationships for ANKH gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium pyrophosphate dihydrate deposition disease 94.7 10 13130483 (2), 12297987 (2), 12707589 (2), 15474385 (2) (see all 5)
    chondrocalcinosis 92.5 21 15818664 (8), 12297987 (1), 12744818 (1), 11981328 (1) (see all 8)
    calcium pyrophosphate dihydrate deposition 91.1 2 18034874 (1)
    calcium pyrophosphate dihydrate crystal deposition disease 83.5 4 13130483 (2), 19088867 (1), 12483726 (1)
    arthrodesis 79 21 15601852 (2), 18728347 (2), 10813297 (1), 19419319 (1) (see all 14)
    pseudogout 73.8 1 15818664 (1)
    calcinosis 69.4 1 11326272 (1)
    arthropathy 61.8 4 17563703 (2), 12297987 (1), 9635372 (1)
    calcification 52 10 15023384 (3), 16462526 (3), 15569637 (2)
    osteoarthritis 48.4 7 15023384 (3), 16462526 (1)

    GeneTests: ANKH
    Craniometaphyseal Dysplasia

    Genetic Association Database (GAD): ANKH
    Human Genome Epidemiology (HuGE) Navigator: ANKH (12 documents)

    Export disorders for ANKH gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ANKH gene, integrated from 9 sources (see all 83):
    (articles sorted by number of sources associating them with ANKH)
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    1. Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH. (PubMed id 12297989)1, 2, 3, 9 Williams C.J.... Brown M.A. (2002)
    2. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. (PubMed id 11326338)1, 2, 3, 9 Reichenberger E....Olsen B.R. (2001)
    3. Role of the mouse ank gene in control of tissue calcification and arthritis. (PubMed id 10894769)1, 2, 3 Ho A.M.... Kingsley D.M. (2000)
    4. Association of sporadic chondrocalcinosis with a -4-basepair G-to-A transition in the 5'-untranslated region of ANKH that promotes enhanced expression of ANKH protein and excess generation of extracellular inorganic pyrophosphate. (PubMed id 15818664)1, 4, 9 Zhang Y....Brown M.A. (2005)
    5. Mutations in ANKH cause chondrocalcinosis. (PubMed id 12297987)1, 2, 9 Pendleton A.... Kingsley D.M. (2002)
    6. Mutations in the amino terminus of ANKH in two US families with calcium pyrophosphate dihydrate crystal deposition disease. (PubMed id 13130483)1, 2, 9 Williams C.J.... Ryan L.M. (2003)
    7. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. (PubMed id 11326272)1, 2, 9 Nuernberg P.... Tinschert S. (2001)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Investigation of the role of ANKH in ankylosing spondylitis. (PubMed id 14558096)1, 4 Timms A.E....Brown M.A. (2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56172 HGNC: 15492 AceView: ANKH Ensembl:ENSG00000154122 euGenes: HUgn56172
    ECgene: ANKH H-InvDB: ANKH

    (According to HUGE)
    About This Section
    HUGE: KIAA1581

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANKH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ANKH Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ANKH

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANKH gene:
    Search GeneIP for patents involving ANKH

    GeneCards and IP:
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